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Hypohidrotic ectodermal dysplasia

ORPHA:238468 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(8)

  • Abnormal dental morphologyHP:0006482
  • Dry skinHP:0000958
  • Generalized hypotrichosisHP:0004528
  • HypodontiaHP:0000668
  • HypohidrosisHP:0000966
  • Sparse body hairHP:0002231
  • Sparse scalp hairHP:0002209
  • Thick vermilion borderHP:0012471

Frequent (79-30%)(17)

  • Abnormality of temperature regulationHP:0004370
  • AnodontiaHP:0000674
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • AsthmaHP:0002099
  • Brittle hairHP:0002299
  • Conical toothHP:0000698
  • Delayed eruption of teethHP:0000684
  • Depressed nasal bridgeHP:0005280
  • Eczematoid dermatitisHP:0000964
  • Feeding difficultiesHP:0011968
  • Food allergyHP:0500093
  • Keratoconjunctivitis siccaHP:0001097
  • Loss of eyelashesHP:0011457
  • Periorbital hyperpigmentationHP:0001106
  • Slow-growing hairHP:0002217
  • Trichorrhexis nodosaHP:0009886
  • XerostomiaHP:0000217

Occasional (29-5%)(19)

  • Abnormal hair quantityHP:0011362
  • Absent sebaceous glandsHP:0410400
  • BlepharitisHP:0000498
  • Breast aplasiaHP:0100783
  • Corneal erosionHP:0200020
  • Corneal opacityHP:0007957
  • Decreased lacrimationHP:0000633
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • Failure to thriveHP:0001508
  • HyperkeratosisHP:0000962
  • Mandibular prognathiaHP:0000303
  • Periorbital wrinklesHP:0000607
  • Premature graying of hairHP:0002216
  • Prominent foreheadHP:0011220
  • Recurrent otitis mediaHP:0000403
  • Recurrent pneumoniaHP:0006532
  • SinusitisHP:0000246
  • Thin skinHP:0000963